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Klinefelter Syndrome

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Andrology

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Abstract

The Klinefelter syndrome (KS) is the most frequent form of male hypogonadism and of chromosome aneuploidy in humans. In the majority of cases, it is due to the congenital numerical chromosome aberration 47,XXY, with a reported prevalence of 0.1–0.2% in the general population and of up to 3.1% in infertile males. In adulthood, the syndrome is typically characterized by the constellation of small firm testes, infertility, and symptoms of androgen deficiency. Moreover, it is accompanied by a series of comorbidities, leading to more frequent hospitalization and contributing to a significant increase in mortality risk. Early recognition and hormonal treatment of KS can significantly improve the patients’ quality of life and prevent serious consequences. Although KS patients are azoospermic or have only few sperm in the ejaculate, some may have isolated testicular foci with intact spermatogenesis so that sperm can be extracted and be used for intra-cytoplasmic sperm injection leading to pregnancies. Due to the extreme heterogeneity of the clinical phenotype, KS is vastly underdiagnosed, and greater knowledge among physicians as well as establishment of standard care in multidisciplinary centers and networks is mandatory.

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Authors and Affiliations

  1. Division of Endocrinology, Andrology and Metabolism, Humanitas Gradenigo Hospital, Department of Medical Sciences, University of Torino, Torino, Italy

    Fabio Lanfranco

  2. Division of Endocrinology, Diabetes and Metabolism, Department of Medical Sciences, University of Torino, Torino, Italy

    Lorenzo Marinelli

  3. Center of Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany

    Eberhard Nieschlag

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  1. Fabio Lanfranco
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  2. Lorenzo Marinelli
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  3. Eberhard Nieschlag
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Correspondence to Fabio Lanfranco .

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Editors and Affiliations

  1. Center for Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany

    Eberhard Nieschlag

  2. Center for Reproductive Medicine and Andrology, University Hospital Halle (Saale), Martin Luther University Halle-Wittenberg, Halle (Saale), Germany

    Hermann M. Behre

  3. Center for Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany

    Sabine Kliesch

  4. Center for Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany

    Susan Nieschlag

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Lanfranco, F., Marinelli, L., Nieschlag, E. (2023). Klinefelter Syndrome. In: Nieschlag, E., Behre, H.M., Kliesch, S., Nieschlag, S. (eds) Andrology. Springer, Cham. https://doi.org/10.1007/978-3-031-31574-9_21

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